ALD/Lorenzo's Oil

In article <Pine.SOL.3.91.950505101011.1446C-100000 at minerva>, Branford Edulink Account <brfd1 at minerva.cis.yale.edu> writes:
> I'm a high school student at Branford high school and I am doing a
> research report on ALD/Lorenzo's Oil. I was wondering if anyone could
> help me with the following questions:
>> 1. When was this disease discovered? How?
According to Dr H. Moser, Siemerling and Creutzfeld described a
case of ALD in 1923, although it wasn't until 1963 that Fanconi
et al proposed that this was a disease with an X-linked mode of
inheritance. The first report concerned a 7 year old boy who had
been unwell for 3-4 years, suffered from darkened skin patches
and showed neurological deterioration (disturbed speech and gait)
by 6.5 years, leading to death.
> 2. how is it transmitted?
It is X-linked; i.e., the gene which (when defective) causes ALD is
on the X chromosome. This means males with a single X show the
disease, whereas female carriers, with 2 X's, tend to be less affected
because they usually have one normal gene.
> 3. What parts of the nervous system does it effect? How?
It takes two forms; the childhood form is more severe and usually
causes death by age of 10. The adult form (known as
adrenomyeloneuropathy, or AMN) has a slower course and is usually
less severe. Both are caused by defects in the same gene, and
bith types may be found in one family. The gene is for a
transporter molecule that sits within the membrane of a
subcellular organelle known as the peroxisome. It is thought
that the damaged protein cannot import an enzyme needed for the
metabolism of fatty substances, known as very long-chain fatty
acids. These substances (the VLCFA) accumulate in various
tissues of the body, including the central nervous system. It is
thought that an immune reaction is triggered, which somehow
causes loss of the myelin (the insulating sheath) around nerves.
This causes the neurological symptoms of ALD.
> Thank you very much in advance.
> Erica Carrano
Incidentally, and unfortunately, Lorenzo's oil does not appear to
work well, if at all. At most it seems to slightly slow the appearance
of some symptoms, but doesn't seem to affect the neurological
deterioration.
--
Cheers,
Martin
NNNN NN Martin A Kennedy (E-mail = mkennedy at chmeds.ac.nz) ZZZZZZZ
NN NN NN Cytogenetic and Molecular Oncology Unit ZZZ
NN NN NN Christchurch School of Medicine ZZZ
NN NNNN Christchurch, New Zealand ZZZZZZZ
Phone (64-3)364-0880 Fax (64-3)364-0750